chr10:104857107:G>A Detail (hg19) (NT5C2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:104,857,107-104,857,107 |
hg38 | chr10:103,097,350-103,097,350 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001134373.2:c.712C>T | NP_001127845.1:p.Arg238Trp |
NM_012229.4:c.712C>T | NP_036361.1:p.Arg238Trp | |
Ensemble | ENST00000676428.1:c.712C>T | ENST00000676428.1:p.Arg238Trp |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
childhood acute lymphocytic leukemia | Thioguanine,Mercaptopurine | D |
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Resistance | Somatic | 4 | 23377183 | Detail |
childhood acute lymphocytic leukemia | Gemcitabine,Prednisolone,Cytarabine,Doxorubicin | D |
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Resistance | Somatic | 4 | 23377183 | Detail |
childhood acute lymphocytic leukemia | C |
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Poor Outcome | Somatic | 2 | 23377183 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Lentiviral-mediated overexpression of NT5C2 R238W in Reh cells resulted in significant resistance ag... | CIViC Evidence | Detail |
Overexpression of NT5C2 R238W in Reh cells resulted in no change in response to cytarabine, gemcitab... | CIViC Evidence | Detail |
71 Childhood B-cell acute lymphocytic leukemia relapse patients had their diagnosis and relapse samp... | CIViC Evidence | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- Genome
- hg19
- Position
- chr10:104,857,107-104,857,107
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- R238W
- Transcript 1 (CIViC Variant)
- ENST00000343289.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2896
Genome browser